Sly Disease: Mucopolysaccharidosis Type VII.
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
Nampoothiri
Sheela
S
Department of Pediatric Genetics,Pediatric Cardiology, and Pathology, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026,Kerala, India. sheelaknpn@yahoo.co.in
Kappanayil
Mahesh
M
Hiran
K R
KR
Sunitha
V
V
D005260:Female; D006801:Humans; D007223:Infant; D008944:Mitral Valve Insufficiency / Q000209:etiology; D009000:Monocytes / Q000473:pathology; D016538:Mucopolysaccharidosis VII / Q000150:complications / Q000175:diagnosis*